| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7674861_7676624dup | CA2573130640 | TP53 | c.-28_672dup c.-21-1386_276dup c.-28_393dup c.-28_651dup c.-25-3_672dup n.112_928dup c.-262_555dup c.-145_555dup c.-142-3_555dup | ClinVar |
| 17 | g.7674875_7674976dup | CA2580094939 | TP53 | c.560-3_658dup c.164-3_262dup c.281-3_379dup c.539-3_637dup n.816-3_914dup n.67+79_67+180dup c.443-3_541dup c.83-3_181dup c.527-3_625dup | ClinVar |
| 17 | g.7674942_7674968del | CA645588810 | TP53 | c.566_592del (p.Ala189_Val197del) c.170_196del (p.Ala57_Val65del) c.287_313del (p.Ala96_Val104del) c.545_571del (p.Ala182_Val190del) n.822_848del n.67+88_67+114del c.449_475del (p.Ala150_Val158del) c.89_115del (p.Ala30_Val38del) c.533_559del (p.Ala178_Val186del) | COSMIC |
| 17 | g.7674953_7674977del | CA645588821 | TP53 | c.560-1_583del c.164-1_187del c.281-1_304del c.539-1_562del n.816-1_839del n.67+81_67+105del c.443-1_466del c.83-1_106del c.527-1_550del | COSMIC |
| 17 | g.7674956_7675053del | CA645588834 | TP53 | c.559+1_576del c.163+1_180del c.280+1_297del c.538+1_555del n.815+1_832del n.67+1_67+98del c.442+1_459del c.82+1_99del c.526+1_543del | COSMIC |
| 17 | g.7674958_7675056del | CA645588839 | TP53 | c.556_573del c.160_177del c.277_294del c.535_552del n.812_829del n.64_67+95del c.439_456del c.79_96del c.523_540del | COSMIC |
| 17 | g.7674960_7675141del | CA913203500 | TP53 | c.472_572del c.76_176del c.193_293del c.451_551del n.728_828del c.355_455del c.-6_95del c.439_539del | |
| 17 | g.7674966_7674969del | CA645588844 | TP53 | c.563_566del (p.Leu188ProfsTer?) c.167_170del (p.Leu56ProfsTer?) c.284_287del (p.Leu95ProfsTer?) c.542_545del (p.Leu181ProfsTer?) n.819_822del n.67+85_67+88del c.446_449del (p.Leu149ProfsTer?) c.86_89del (p.Leu29ProfsTer?) c.530_533del (p.Leu177ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674965_7675432del | CA1139665126 | TP53 | c.376-196_566del c.-21-196_170del c.97-196_287del c.376-217_545del c.-217_170del n.632-196_822del c.259-196_449del c.-298_89del c.341-194_533del | ClinVar |
| 17 | g.7674967_7675053del | CA645588847 | TP53 | c.559+1_565del c.163+1_169del c.280+1_286del c.538+1_544del n.815+1_821del n.67+1_67+87del c.442+1_448del c.82+1_88del c.526+1_532del | COSMIC |
| 17 | g.7674969_7675054del | CA645588846 | TP53 | c.559+2_565del c.163+2_169del c.280+2_286del c.538+2_544del n.815+2_821del n.67+2_67+87del c.442+2_448del c.82+2_88del c.526+2_532del | COSMIC |
| 17 | g.7674967_7674968delinsCA | CA2245955343 | TP53 | c.563_564delinsTG (p.Leu188=) c.167_168delinsTG (p.Leu56=) c.284_285delinsTG (p.Leu95=) c.542_543delinsTG (p.Leu181=) n.819_820delinsTG n.67+85_67+86delinsTG c.446_447delinsTG (p.Leu149=) c.86_87delinsTG (p.Leu29=) c.530_531delinsTG (p.Leu177=) | |
| 17 | g.7674968_7674971dup | CA916081901 | TP53 | c.561_564dup (p.Ala189SerfsTer21) c.165_168dup (p.Ala57SerfsTer21) c.282_285dup (p.Ala96SerfsTer21) c.540_543dup (p.Ala182SerfsTer21) n.817_820dup n.67+83_67+86dup c.444_447dup (p.Ala150SerfsTer21) c.84_87dup (p.Ala30SerfsTer21) c.528_531dup (p.Ala178SerfsTer21) | ClinVar dbSNP |
| 17 | g.7674968del | CA915949534 | TP53 | c.563del (p.Leu188ArgfsTer?) c.167del (p.Leu56ArgfsTer?) c.284del (p.Leu95ArgfsTer?) c.542del (p.Leu181ArgfsTer?) n.819del n.67+85del c.446del (p.Leu149ArgfsTer?) c.86del (p.Leu29ArgfsTer?) c.530del (p.Leu177ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7674968A= | CA2245955346 | TP53 | c.563T= (p.Leu188=) c.167T= (p.Leu56=) c.284T= (p.Leu95=) c.542T= (p.Leu181=) n.819T= n.67+85T= c.446T= (p.Leu149=) c.86T= (p.Leu29=) c.530T= (p.Leu177=) | |
| 17 | g.7674968A>C | CA397840892 | TP53 | c.563T>G (p.Leu188Arg) c.167T>G (p.Leu56Arg) c.284T>G (p.Leu95Arg) c.542T>G (p.Leu181Arg) n.819T>G n.67+85T>G c.446T>G (p.Leu149Arg) c.86T>G (p.Leu29Arg) c.530T>G (p.Leu177Arg) | |
| 17 | g.7674968A>G | CA397840899 | TP53 | c.563T>C (p.Leu188Pro) c.167T>C (p.Leu56Pro) c.284T>C (p.Leu95Pro) c.542T>C (p.Leu181Pro) n.819T>C n.67+85T>C c.446T>C (p.Leu149Pro) c.86T>C (p.Leu29Pro) c.530T>C (p.Leu177Pro) | dbSNP |
| 17 | g.7674968A>T | CA397840901 | TP53 | c.563T>A (p.Leu188Gln) c.167T>A (p.Leu56Gln) c.284T>A (p.Leu95Gln) c.542T>A (p.Leu181Gln) n.819T>A n.67+85T>A c.446T>A (p.Leu149Gln) c.86T>A (p.Leu29Gln) c.530T>A (p.Leu177Gln) | dbSNP |
| 17 | g.7674968_7674969delinsTA | CA645588848 | TP53 | c.562_563delinsTA (p.Leu188Ter) c.166_167delinsTA (p.Leu56Ter) c.283_284delinsTA (p.Leu95Ter) c.541_542delinsTA (p.Leu181Ter) n.818_819delinsTA n.67+84_67+85delinsTA c.445_446delinsTA (p.Leu149Ter) c.85_86delinsTA (p.Leu29Ter) c.529_530delinsTA (p.Leu177Ter) | COSMIC |
| 17 | g.7674969del | CA2739265577 | TP53 | c.562del (p.Leu188TrpfsTer?) c.166del (p.Leu56TrpfsTer?) c.283del (p.Leu95TrpfsTer?) c.541del (p.Leu181TrpfsTer?) n.818del n.67+84del c.445del (p.Leu149TrpfsTer?) c.85del (p.Leu29TrpfsTer?) c.529del (p.Leu177TrpfsTer?) | ClinVar |
| 17 | g.7674969G>A | CA497925407 | TP53 | c.562C>T (p.Leu188=) c.166C>T (p.Leu56=) c.283C>T (p.Leu95=) c.541C>T (p.Leu181=) n.818C>T n.67+84C>T c.445C>T (p.Leu149=) c.85C>T (p.Leu29=) c.529C>T (p.Leu177=) | dbSNP |
| 17 | g.7674969G>C | CA397840905 | TP53 | c.562C>G (p.Leu188Val) c.166C>G (p.Leu56Val) c.283C>G (p.Leu95Val) c.541C>G (p.Leu181Val) n.818C>G n.67+84C>G c.445C>G (p.Leu149Val) c.85C>G (p.Leu29Val) c.529C>G (p.Leu177Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674969G= | CA2245955349 | TP53 | c.562C= (p.Leu188=) c.166C= (p.Leu56=) c.283C= (p.Leu95=) c.541C= (p.Leu181=) n.818C= n.67+84C= c.445C= (p.Leu149=) c.85C= (p.Leu29=) c.529C= (p.Leu177=) | |
| 17 | g.7674969G>T | CA397840906 | TP53 | c.562C>A (p.Leu188Met) c.166C>A (p.Leu56Met) c.283C>A (p.Leu95Met) c.541C>A (p.Leu181Met) n.818C>A n.67+84C>A c.445C>A (p.Leu149Met) c.85C>A (p.Leu29Met) c.529C>A (p.Leu177Met) | COSMIC |
| 17 | g.7674969_7674970insT | CA645588850 | TP53 | c.561_562insA (p.Leu188ThrfsTer21) c.165_166insA (p.Leu56ThrfsTer21) c.282_283insA (p.Leu95ThrfsTer21) c.540_541insA (p.Leu181ThrfsTer21) n.817_818insA n.67+83_67+84insA c.444_445insA (p.Leu149ThrfsTer21) c.84_85insA (p.Leu29ThrfsTer21) c.528_529insA (p.Leu177ThrfsTer21) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674970A>C | CA497925408 | TP53 | c.561T>G (p.Gly187=) c.165T>G (p.Gly55=) c.282T>G (p.Gly94=) c.540T>G (p.Gly180=) n.817T>G n.67+83T>G c.444T>G (p.Gly148=) c.84T>G (p.Gly28=) c.528T>G (p.Gly176=) | |
| 17 | g.7674970A>G | CA497925409 | TP53 | c.561T>C (p.Gly187=) c.165T>C (p.Gly55=) c.282T>C (p.Gly94=) c.540T>C (p.Gly180=) n.817T>C n.67+83T>C c.444T>C (p.Gly148=) c.84T>C (p.Gly28=) c.528T>C (p.Gly176=) | dbSNP COSMIC |
| 17 | g.7674970A>T | CA497925411 | TP53 | c.561T>A (p.Gly187=) c.165T>A (p.Gly55=) c.282T>A (p.Gly94=) c.540T>A (p.Gly180=) n.817T>A n.67+83T>A c.444T>A (p.Gly148=) c.84T>A (p.Gly28=) c.528T>A (p.Gly176=) | dbSNP |
| 17 | g.7674970dup | CA497925412 | TP53 | c.561dup (p.Leu188SerfsTer21) c.165dup (p.Leu56SerfsTer21) c.282dup (p.Leu95SerfsTer21) c.540dup (p.Leu181SerfsTer21) n.817dup n.67+83dup c.444dup (p.Leu149SerfsTer21) c.84dup (p.Leu29SerfsTer21) c.528dup (p.Leu177SerfsTer21) | |
| 17 | g.7674970_7674971del | CA645588851 | TP53 | c.560_561del (p.Gly187AlafsTer21) c.164_165del (p.Gly55AlafsTer21) c.281_282del (p.Gly94AlafsTer21) c.539_540del (p.Gly180AlafsTer21) n.816_817del n.67+82_67+83del c.443_444del (p.Gly148AlafsTer21) c.83_84del (p.Gly28AlafsTer21) c.527_528del (p.Gly176AlafsTer21) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674973_7675053del | CA2535011697 | TP53 | c.559+3_561del c.163+3_165del c.280+3_282del c.538+3_540del n.815+3_817del n.67+3_67+83del c.442+3_444del c.82+3_84del c.526+3_528del | |
| 17 | g.7674971C>A | CA397840913 | TP53 | c.560G>T (p.Gly187Val) c.164G>T (p.Gly55Val) c.281G>T (p.Gly94Val) c.539G>T (p.Gly180Val) n.816G>T n.67+82G>T c.443G>T (p.Gly148Val) c.83G>T (p.Gly28Val) c.527G>T (p.Gly176Val) | ClinVar dbSNP COSMIC |
| 17 | g.7674971C= | CA2245955353 | TP53 | c.560G= (p.Gly187=) c.164G= (p.Gly55=) c.281G= (p.Gly94=) c.539G= (p.Gly180=) n.816G= n.67+82G= c.443G= (p.Gly148=) c.83G= (p.Gly28=) c.527G= (p.Gly176=) | |
| 17 | g.7674971C>G | CA397840909 | TP53 | c.560G>C (p.Gly187Ala) c.164G>C (p.Gly55Ala) c.281G>C (p.Gly94Ala) c.539G>C (p.Gly180Ala) n.816G>C n.67+82G>C c.443G>C (p.Gly148Ala) c.83G>C (p.Gly28Ala) c.527G>C (p.Gly176Ala) | ClinVar dbSNP |
| 17 | g.7674971C>T | CA16620626 | TP53 | c.560G>A (p.Gly187Asp) c.164G>A (p.Gly55Asp) c.281G>A (p.Gly94Asp) c.539G>A (p.Gly180Asp) n.816G>A n.67+82G>A c.443G>A (p.Gly148Asp) c.83G>A (p.Gly28Asp) c.527G>A (p.Gly176Asp) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674971_7674972delinsTT | CA645588854 | TP53 | c.560-1_560delinsAA c.164-1_164delinsAA c.281-1_281delinsAA c.539-1_539delinsAA n.816-1_816delinsAA n.67+81_67+82delinsAA c.443-1_443delinsAA c.83-1_83delinsAA c.527-1_527delinsAA | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674972del | CA497925413 | TP53 | c.560del c.164del c.281del c.539del n.816del n.67+82del c.443del c.83del c.527del | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674972C>A | CA397840943 | TP53 | c.560-1G>T (n.560-1G>T) c.164-1G>T (n.164-1G>T) c.281-1G>T (n.281-1G>T) c.539-1G>T (n.539-1G>T) n.816-1G>T n.67+81G>T c.443-1G>T (n.443-1G>T) c.83-1G>T (n.83-1G>T) c.527-1G>T (n.527-1G>T) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674972C= | CA2245955359 | TP53 | c.560-1G= (n.560-1G=) c.164-1G= (n.164-1G=) c.281-1G= (n.281-1G=) c.539-1G= (n.539-1G=) n.816-1G= n.67+81G= c.443-1G= (n.443-1G=) c.83-1G= (n.83-1G=) c.527-1G= (n.527-1G=) | |
| 17 | g.7674972C>G | CA397840948 | TP53 | c.560-1G>C (n.560-1G>C) c.164-1G>C (n.164-1G>C) c.281-1G>C (n.281-1G>C) c.539-1G>C (n.539-1G>C) n.816-1G>C n.67+81G>C c.443-1G>C (n.443-1G>C) c.83-1G>C (n.83-1G>C) c.527-1G>C (n.527-1G>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674972C>T | CA397840949 | TP53 | c.560-1G>A (n.560-1G>A) c.164-1G>A (n.164-1G>A) c.281-1G>A (n.281-1G>A) c.539-1G>A (n.539-1G>A) n.816-1G>A n.67+81G>A c.443-1G>A (n.443-1G>A) c.83-1G>A (n.83-1G>A) c.527-1G>A (n.527-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674972_7674975delinsCTAA | CA2245955357 | TP53 | c.560-4_560-1delinsTTAG (n.560-4_560-1delinsTTAG) c.164-4_164-1delinsTTAG (n.164-4_164-1delinsTTAG) c.281-4_281-1delinsTTAG (n.281-4_281-1delinsTTAG) c.539-4_539-1delinsTTAG (n.539-4_539-1delinsTTAG) n.816-4_816-1delinsTTAG n.67+78_67+81delinsTTAG c.443-4_443-1delinsTTAG (n.443-4_443-1delinsTTAG) c.83-4_83-1delinsTTAG (n.83-4_83-1delinsTTAG) c.527-4_527-1delinsTTAG (n.527-4_527-1delinsTTAG) | |
| 17 | g.7674973_7674983del | CA913184715 | TP53 | c.560-11_560-1del (n.560-11_560-1del) c.164-11_164-1del (n.164-11_164-1del) c.281-11_281-1del (n.281-11_281-1del) c.539-11_539-1del (n.539-11_539-1del) n.816-11_816-1del n.67+71_67+81del c.443-11_443-1del (n.443-11_443-1del) c.83-11_83-1del (n.83-11_83-1del) c.527-11_527-1del (n.527-11_527-1del) | |
| 17 | g.7674973T>A | CA397840950 | TP53 | c.560-2A>T (n.560-2A>T) c.164-2A>T (n.164-2A>T) c.281-2A>T (n.281-2A>T) c.539-2A>T (n.539-2A>T) n.816-2A>T n.67+80A>T c.443-2A>T (n.443-2A>T) c.83-2A>T (n.83-2A>T) c.527-2A>T (n.527-2A>T) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674973T>C | CA397840954 | TP53 | c.560-2A>G (n.560-2A>G) c.164-2A>G (n.164-2A>G) c.281-2A>G (n.281-2A>G) c.539-2A>G (n.539-2A>G) n.816-2A>G n.67+80A>G c.443-2A>G (n.443-2A>G) c.83-2A>G (n.83-2A>G) c.527-2A>G (n.527-2A>G) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674973T>G | CA397840962 | TP53 | c.560-2A>C (n.560-2A>C) c.164-2A>C (n.164-2A>C) c.281-2A>C (n.281-2A>C) c.539-2A>C (n.539-2A>C) n.816-2A>C n.67+80A>C c.443-2A>C (n.443-2A>C) c.83-2A>C (n.83-2A>C) c.527-2A>C (n.527-2A>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674973T= | CA2245955364 | TP53 | c.560-2A= (n.560-2A=) c.164-2A= (n.164-2A=) c.281-2A= (n.281-2A=) c.539-2A= (n.539-2A=) n.816-2A= n.67+80A= c.443-2A= (n.443-2A=) c.83-2A= (n.83-2A=) c.527-2A= (n.527-2A=) | |
| 17 | g.7674973_7674975del | CA16615727 | TP53 | c.560-4_560-2del (n.560-4_560-2del) c.164-4_164-2del (n.164-4_164-2del) c.281-4_281-2del (n.281-4_281-2del) c.539-4_539-2del (n.539-4_539-2del) n.816-4_816-2del n.67+78_67+80del c.443-4_443-2del (n.443-4_443-2del) c.83-4_83-2del (n.83-4_83-2del) c.527-4_527-2del (n.527-4_527-2del) | ClinVar dbSNP |